Variant report

Variant	esv3429162
Chromosome Location	chr5:89389226-89389664
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:89387870..89390195-chr5:89390248..89392767,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375339289	chr5:89389255-89389256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs157559	chr5:89389259-89389260	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs157558	chr5:89389286-89389287	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs556094011	chr5:89389288-89389289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188535621	chr5:89389291-89389292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181298491	chr5:89389325-89389326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375744326	chr5:89389333-89389334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528754917	chr5:89389341-89389342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548877419	chr5:89389420-89389421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147274939	chr5:89389455-89389456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139206391	chr5:89389461-89389462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185755977	chr5:89389466-89389467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191014487	chr5:89389502-89389503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115468746	chr5:89389509-89389510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551710960	chr5:89389535-89389536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Colorectal cancer	16774939	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89388200-89392200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr5:89388600-89391600	Enhancers	Rectal Smooth Muscle	rectum
3	chr5:89388600-89392200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:89388800-89393200	Enhancers	NHEK	skin
5	chr5:89389200-89390600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr5:89389400-89391800	Enhancers	Colon Smooth Muscle	Colon
7	chr5:89389400-89392200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:89389400-89392800	Enhancers	Placenta Amnion	Placenta Amnion
9	chr5:89389400-89392800	Enhancers	HMEC	breast
10	chr5:89389600-89389800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:89389600-89390000	Enhancers	Primary hematopoietic stem cells	blood
12	chr5:89389600-89390000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:89389600-89390000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:89389600-89390200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr5:89389600-89390600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:89389600-89391000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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